Leukaemic presentation of small cell variant anaplastic large cell lymphoma: report of four cases

Abstract

Summary.We report four cases of a rare subtype of CD30-positive anaplastic large cell lymphoma (ALCL) with a predominant small cell component (small cell variant of ALCL) presenting with a leukaemic feature. Lymph node biopsy showed malignant cells of varying size with a predominant population of small to medium-sized malignant cells associated with large anaplastic cells strongly positive for CD30 and epithelial membrane antigen (EMA). Both large and small cells were reactive with antibody ALK1, which recognizes the chimaeric NPM-ALK protein associated with the t(2;5)(p23;q35). All patients presented with hyperleucocytosis with atypical small lymphocytes. Bone marrow involvement was detected on both aspirate and bone marrow trephine where scattered malignant cells were only demonstrated by immunostaining for CD30 and ALK protein. Atypical cells in peripheral blood, lymph node and skin biopsies showed a T or null cell phenotype. Cytogenetic analysis of blood, bone marrow and/or lymph node revealed the t(2;5)(p23;q35) characteristic of ALCL. The patients responded to chemotherapy but showed early relapse without abnormal cells in peripheral blood.This report shows that the small cell variant of ALCL may have a leukaemic presentation with peripheral blood involvement by atypical lymphocytes and provides evidence that, in the small cell variant of ALCL, the small cell component is a part of the malignant clone.

CD30 and the NPM‐ALK fusion protein (p80) are differentially expressed between peripheral blood and bone marrow in primary small cell variant of anaplastic large cell lymphoma

“…This evidence suggests at least the staining for CD30 and p80 in the small cells in the lymph node was only weakly positive. Furthermore, negative staining of small cells in peripheral blood for CD30 in the present case was consistent with the observation reported by Bayle et al [12]. In this study, we found that p80 was not detected in small cells in peripheral blood.…”

“…However, lymphoma cells (independently of cell size) in peripheral blood were unexpectedly nonreactive with the same antibodies. What is intriguing is that previous reports [12,13] showed that, in contrast to the positive nuclear and cytoplasmic staining of ALK (detected by ALK1 antibody) in large cells of the lymph node, the staining in small cells was weak and restricted to the nucleus. In those studies, the same tendency was observed in the staining for CD30 of small cells of the lymph node.…”

Proteins encoded by genes involved in chromosomal alterations in lymphoma and leukemia: clinical value of their detection by immunocytochemistry

“…228,230,236,237 There is no reason, however, to think of this as a different disease, although spread of the disease to the peripheral blood and bone marrow may be more likely in cases of this sort. 248,249 ALK-positive lymphomas usually express T-cell markers and/or cytotoxic granule proteins, CD30, and epithelial membrane antigen and c-Myc. 219,222,228,230,250 Unlike ALK-negative cases, ALKpositive ALCLs are consistently BCL2 negative.…”

Pediatric ALK+ anaplastic large cell lymphoma with t(3;8)(q26.2;q24) translocation and c‐myc rearrangement terminating in a leukemic phase

“…Presentation of ALCL in a leukemic phase, either at presentation or at relapse, has rarely been reported, mostly as case reports [9,10]. Two small series of four and three pediatric patients with ALK+ ALCL with a leukemic phase were reported by Bayle et al [13] and Onciu et al [8], respectively. In the most recent series [8], a review of the literature showed only 12 total reported cases, nine of which were pediatric patients.…”